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Osteogenesis Imperfecta Flashcards

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1
Q

Ehler Danlos is a defect in

A

Collagens

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2
Q

Supraventricular aortic stenosis (autosomal dominant) is a defect in

A

elastin

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3
Q

marfan’s has a defect in…

A

Fibrillin

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4
Q

What are the cardinal features of osteogenesis imperfecta?

A
  1. low bone bass
  2. reduced bone mineral strength
  3. increased bone fragility
  4. Increased bone deformity
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5
Q

Describe type I OI’s presenting features

A 
MILD FORM
Normal stature, little deformity
blue sclera
50% hearing loss
joint hypermobility and easy bruising
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6
Q

How is type I osteogenesis imperfecta inherited?

A

autosomal dominant

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7
Q

Type IA vs Type IB?

A

IA: Normal teeth
IB: dentinogenesis

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8
Q

What are the heart problems in type I?

A

aortic root dilatation and mitral valve prolapse

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9
Q

When do you typically see fractures in Type I?

A

When kids can walk. Usually long bone fractures. Decreased fracture risk after puberty, but another increase after menopause

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10
Q

What are the features of type II OI?

A 
PERINATAL LETHAL
Platyspondyly (fusion of vertebrae)
Beaded ribs
Compressed femurs
Long bone deformity
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11
Q

What are the features of type III OI?

A

Some deformity at birth which progresses

  • hearing loss common
  • Dentinogenesis common
  • SHORT STATURE
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12
Q

How is type III inherited?

A

Autosomal dominant

Rarely autosomal recessive

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13
Q

Describe how Type IV presents

A

More fractures/deformity, and shorter than type I. Sometimes presents in adult women as osteoporosis.

  • Curving of femur/tibia/fibula
  • Osteoporosis
  • Wide range of phenotypes
  • Scoliosis
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14
Q

Where is type I collagen found?

A

Skin, tendon, bone, arteries

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15
Q

Describe the structure of type I collagen

A

2 pieces of alpha-1 collagen

1 piece of alpha-2 collagen

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16
Q

Describe the pathogenesis of osteobenesis

A

Bone is less thick with thin trabeculae

  • -Overal bone formation rate is higher
  • -But overall bone resorption is much greater.
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17
Q

What is different about OI types V, VI, and VII?

A

NOT caused by Collagen I A1 and A2

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18
Q

What are your treatment options?

A

Physical therapy/orthoses
Surgical rod placement
Experimenting with bisphosphonates, growth hormone, BMT

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19
Q

What are the clues that you are looking at OI?

A

recurrent fractures after minor trauma

  • Radiographs
  • hearing loss/short stature, dentinogenesis
  • childhood or unexplained osteoporosis
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20
Q

What are the different types of localized scleroderma?

A

morphea

linear scleroderma

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21
Q

What are the different types of systemic scleroderma?

A

limited
diffuse
sine scleroderma

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22
Q

Which parts of the skin on the body are involved in limited systemic scleroderma?

A

Everything but the bathing suit region.

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23
Q

What does the skin look like in scleroderma?

A

Swollen, red, itchy

  • ->turns shiny, tight, and thick
  • ->sclerodactyly
  • ->digital ulcers
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24
Q

Which parts of the body are affected first in scleroderma (skin manifestations)

A

fingers, hands, face

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25
What percent of people have scleroderma without the skin findings/sclerosis?
5%
26
What is limited systemic sclerosis?
``` Calcinosis cutis Raynaud's Esophageal dysmotility Sclerodactyly Telangiectasias ```
27
What are the three phases/colors of raynaud's
1. Blanching 2. Cyanosis 3. Reactive hyperemia - ->Can be accompanied by structural changes in small blood vessels (vasculopathy) - -tapering of fingers - fingertip ischemia/necrosis - -Abnormal nail fold capillaries
28
You are seeing a new onset raynaud's pt in her forties. What is the most important PE finding?
dilated nailfold capillaries. Seen only in CT dzs, not in idiopathic or primary raynauds.
29
Where might you see telangiectasias?
fingers/hands/face | -Can grow and in GI tract can cause blood loss
30
What are the components of diffuse disease of scleroderma?
1. early organ involvement 2. Renal crisis 3. Pulm fibrosis
31
What are the components of limited disease in scleroderma?
CREST | Pulmonary hypertension
32
What does the pathophysiology of scleroderma not include?
Vasculitis
33
Which cells are activated in scleroderma?
fibroblasts endothelial cells B and T cells
34
What is a vasculopathy?
Widespread obliterative vasculopathy and failure to replace ddamaged blood vessels. Leads to Raynaud's, pulmonary artery hypertension and scleroderma
35
What are the histological findings of vasculopathy?
1. Thickening of intima 2. Fibrosis of the adventitia 3. No inflammation
36
How do you diagnose pulmonary artery hypertension in scleroderma?
PFTs show DLco high Echo with doppler Right heart cath is gold std -->important because PAH is often asymptomatic
37
What is scleroderma renal crisis?
Sudden increase in HTN with renal failure and micro hematuria
38
What can put a pt with scleroderma at risk of renal crisis?
moderate/high dose steroids
39
Which autoantibodies are present in diffuse scleroderma?
Anti-topoisomerase 1
40
Which autoantibodies are present in limited scleroderma?
anti-centromere antibody
41
What is the pathology behind scleroderma?
macrophages activated by endothelial damage T cells activated producing profibrotic cytokines B cells activated and produce autoantibodies
42
What are the downstream effects of fibroblasts?
Sclerodactyly GI dysmotility Pulmonary fibrosis
43
When does ILD occur in scleroderma?
Occurs in the first 3 years. Greatest loss in first 2 years. Diffuse dz at higher risk
44
What are the components of the GI features of scleroderma?
1. esophageal hypomotility 2. incompetent LES 3. Gastroparesis 4. bacterial overgrowth/malabsorption 5. constipation
45
What is gastric antral vascular ectasia?
Thinning of the gastric mucosa: like a watermelon This happens in scleroderma
46
What are the musculoskeletal findings of scleroderma?
1. Arthraligas and stiffness 2. Synovitis (non-erosive) 3. Tendon friction rubs (deposits on tendon sheaths) 4. Joint contractures 5. Myopathy (weakness) with no CK elevation. Not responsive to steroids 6. Myositis
47
What is your typical scleroderma patient look like?
30-50 yo females. Worse in african-americans
48
What is the strongest risk factor for systemic scleroderma?
Positive family history. However, genetics are complex.
49
How do you treat scleroderma?
``` Skin: methotrexate/cyclophosphamide Raynaud's: avoid triggers and long-acting calcium channel blockers, angiotensin-receptor blockers MSK: prednisone/nsaids GI: PPI/prokinetics Renal: ACE inhibitors ILD: cyclophosphamide PAH: CCBs, oxygen, etc. ```
50
The most common scleroderma-related cause of death in pts with scleroderma:
lung disease. In diffuse disease, the mortality rate is 5-8x higher
51
What is sjogren's syndrome? Know the difference btw primary vs secondary
Dry eyes and mouth caused by autoimmune dysfunction of exocrine glands. Secondary sjogren's: Caused by another autoimmune CT dz, usually rheumatoid arthritis
52
Describe the pathophysiology of Sjogren's Syndrome
Trigger like a virus - -deregulated epithelium - -Activated T cells (More CD4+) - -Activated dendritic cells - -Type I IFN (lymphocyte retention) - -BAFF : produces surviving self reactive B cells=IgA Cytotoxic T cells and autoantibodies produced
53
What are the antibodies you would see in Sjogren's?
Ro and La nuclear antigens
54
What are the ocular symptoms of SS?
dry eyes, photophobia/redness/crusty eyes
55
What stain would you use to diagnose SS in the eyes?
Lissamine green stain | OR rose bengal stain (painful)
56
Filamentary keratitis
Corneal epithelium sloughs off in Sjogrens
57
What other non-staining diagnostic tests are there for Sjogren's in the eye?
Schirmer's test: Use filter paper to evaluate tear production Slit lamp exam
58
What are the oral symptoms of sjogren's?
No saliva, tooth decay and dental caries - -Parotid enlargement - -Ulcers
59
How do you diagnose dry mouth in Sjogren's?
Physical exam and then biopsy shows periductal lymphocytic infiltrates
60
What other parts become dry in Sjogren's?
Nose Trachea Skin: itchy Vagina
61
What cancer are Sjogren patients at risk for?
Lymphoma
62
What is the excess mortality from Sjogren's?
If no lymphoma, no difference in mortality, unlike scleroderma
63
What is the three pronged approach to sjogren's?
1. Moisture replacement 2. Stimulation of secretions (pilocarpine/cevimeline muscarinic receptors) 3. Immunosuppression for systemic dz
64
What does candidiasis look like in a sjogren's pt?
Erythema, not white plaques
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